The 7436-bp mitochondrial DNA deletion as a risk factor for ulcerative colitis in the Iranian population

Ulcerative colitis (UC) is a chronic condition characterized by inflammation in the colon. Free radicals and oxidative stress play a significant role in the pathophysiology of UC. Excessive production of reactive oxygen species can damage the mitochondrial genome, leading to mutations such as the7436-bp deletion. The aim of this study was to identify the presence of the 7436-bp mtDNA deletion in patients with UC and its association with susceptibility to colon inflammation. This case-control study, included 195 patients with UC and 250 healthy individuals from the Iranian population. The Multiplex PCR method was used to detect the 7436-bp mtDNA deletion. Statistical analysis was performed using SPSS software. The frequency of 7436-bp mtDNA deletion in patients was 41.5% and 6.8% in healthy individuals. Statistical analysis showed a significant association between the frequency of the 7436-bp mtDNA deletion and UC (<i>p</i> = 0.016). Furthermore, a significant difference was found between the presence of this deletion and an increased risk of severe (<i>p</i> = 0.003) and extensive (<i>p</i> = 0.002) forms of UC. There was no statistically significant difference in the frequency of this deletion between younger patients and the control group. This study suggests that the presence of the 7436-bp mtDNA deletion is a risk factor for UC and plays a significant role in the pathogenesis of the disease. Further research involving larger and more diverse populations is necessary to validate or challenge these findings. Identifying these mutations can enhance our understanding of genetic factors influencing UC.